A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727667



Internal ID151333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19919729..19919792hg38UCSC Ensembl
chr22:19907252..19907315hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534389
Supporting Variants
Samples
Known GenesTXNRD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727667
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.20815


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